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Functional analysis of introns and gene regulatory sequences aimed at targeted modulation of gene expression

Objective

Regulation of gene expression is a complex phenomenon poorly understood. Our project aims to improve our knowledge about non-coding sequences, increasingly show to be relevant for modulating gene expression, using dystrophin gene and dystrophinopathies as model. Among the series of characterised patients, available in the collaborative units, several have unusual mutations and phenotype suggesting a role of non-coding regions. We will analyse these patients in order to identify and functionally study the regulatory sequences responsible. We will define the intronic breakpoints as well as other non-coding regions involved in dystrophin mutations. We will characterise these sequences by experimental studies to test their regulatory function with particular attention to those involved in pre-mRNA splicing. we will evaluate the feasibility of a targeted modulation of dystrophin gene expression using antisense oligonucleotides.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

UNIVERSITA DEGLI STUDI DI FERRARA
Address
Via Savonarola 9
Ferrara
Italy

Participants (4)

IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE
United Kingdom
Address
South Kensington Campus
London
LEIDEN UNIVERSITY
Netherlands
Address
Wassenaarseweg 72
2300 RA Leiden
UNIVERSITA DEGLI STUDI DI PADOVA
Italy
Address
Via U.bassi 58/B
35131 Padova
UNIVERSITY OF LEICESTER
United Kingdom
Address
University Road
LE1 7RH Leicester